Haplotype estimation for biobank-scale data sets
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Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
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Jared O'Connell1,2, Kevin Sharp2, Nick Shrine3
1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Nature Genetics
|June 9, 2016
Abstract:
The UK Biobank (UKB) has recently released genotypes on 152,328 individuals together with extensive phenotypic and lifestyle information. We present a new phasing method, SHAPEIT3, that can handle such biobank-scale data sets and results in switch error rates as low as ∼0.3%. The method exhibits O(NlogN) scaling with sample size N, enabling fast and accurate phasing of even larger cohorts.
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